Kerime AKYOL SUMER, Emre BORA
Klinik Psikiyatri Dergisi - 2026;29(1):53-57
Chorea-acanthocytosis is one of the neuroacanthocytosis syndromes; a rare (1-5 per 1,000,000) and progressive neurodegenerative disorder characterized by abnormalities in the nervous system accompanied by erythrocyte acanthocytosis. Various neurological dysfunctions and psychiatric symptoms coexist, significantly reducing both quality of life and life expectancy. Due to the rarity of the disease, diagnosis can sometimes be delayed; the initial presentation may include vague cognitive or psychiatric symptoms, leading to prolonged misdiagnoses and incorrect management. In middle-aged adults presenting with chorea and tic-like involuntary movements alongside psychiatric disorders, neuroacanthocytosis syndromes should always be considered. A thorough neurological and psychiatric examination should be conducted, and necessary imaging and laboratory tests should be performed.In this case report, we present the detailed diagnostic evaluation process of a patient suspected of having chorea-acanthocytosis with neuropsychiatric symptoms, in light of the existing literature.
